Canonical Allele Identifier: CA157145637

Linked Data

dbSNP Id: rs1052223593
gnomAD v3: 7-37906794-A-G
gnomAD v4: 7-37906794-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.37906794A>G , CM000669.2:g.37906794A>G GRCh38
NC_000007.13:g.37946396A>G , CM000669.1:g.37946396A>G GRCh37
NC_000007.12:g.37912921A>G NCBI36
NG_052980.1:g.15130T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000436072.7:c.*685T>C (SFRP4) MANE Select ENSP00000410715.2:n.*685T>C
ENST00000436072.6:c.*685T>C (SFRP4) ENSP00000410715.2:n.*685T>C
ENST00000476620.1:c.-37-42046A>G (EPDR1) ENSP00000425858.1:n.-37-42046A>G
NM_003014.3:c.*685T>C (SFRP4) NP_003005.2:n.*685T>C
NM_003014.4:c.*685T>C (SFRP4) MANE Select NP_003005.2:n.*685T>C